• Gene id: 11262

Gene Summary

• Gene Symbol: SP140   Gene   UCSC   Ensembl
• Aliases: LYSP100, LYSP100-A, LYSP100-B
• Gene name: SP140 nuclear body protein
• Alternate names: nuclear body protein SP140, lymphoid-restricted homolog of Sp100, lymphoid-specific SP100 homolog, nuclear autoantigen Sp-140, speckled 140 kDa,
• Gene location: 2q37.1 (230202742: 230316570)     Exons: 34     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a
• OMIM: 608602

Protein Summary

• Protein general information: Q13342  
  • Name: Nuclear body protein SP140 (Lymphoid restricted homolog of Sp100) (LYSp100) (Nuclear autoantigen Sp 140) (Speckled 140 kDa)
  • Length: 867  
  • Mass: 98223
  • Tissue specificity: High levels in spleen and peripheral blood leukocytes, much lower levels in tonsils, thymus, prostate, ovary, small intestine, and colon (PubMed
• Sequence:

  MAQQGQQGQMASGDSNLNFRMVAEIQNVEGQNLQEQVCPEPIFRFFRENKVEIASAITRPFPFLMGLRDRSFISE
  QMYEHFQEAFRNLVPVTRVMYCVLSELEKTFGWSHLEALFSRINLMAYPDLNEIYRSFQNVCYEHSPLQMNNVND
  LEDRPRLLPYGKQENSNACHEMDDIAVPQEALSSSPRCEPGFSSESCEQLALPKAGGGDAEDAPSLLPGGGVSCK
  LAIQIDEGESEEMPKLLPYDTEVLESNGMIDAARTYSTAPGEKQGEEEGRNSPRKRNQDKEKYQESPEGRDKETF
  DLKTPQVTNEGEPEKGLCLLPGEGEEGSDDCSEMCDGEEPQEASSSLARCGSVSCLSAETFDLKTPQVTNEGEPE
  KELSLLPGEGEEGSDDCSEMCDGEERQEASSSLARRGSVSSELENHPMNEEGESEELASSLLYDNVPGAEQSAYE
  NEKCSCVMCFSEEVPGSPEARTESDQACGTMDTVDIANNSTLGKPKRKRRKKRGHGWSRMRMRRQENSQQNDNSK
  ADGQVVSSEKKANVNLKDLSKIRGRKRGKPGTRFTQSDRAAQKRVRSRASRKHKDETVDFKAPLLPVTCGGVKGI
  LHKKKLQQGILVKCIQTEDGKWFTPTEFEIKGGHARSKNWRLSVRCGGWPLRWLMENGFLPDPPRIRYRKKKRIL
  KSQNNSSVDPCMRNLDECEVCRDGGELFCCDTCSRVFHEDCHIPPVEAERTPWNCIFCRMKESPGSQQCCQESEV
  LERQMCPEEQLKCEFLLLKVYCCSESSFFAKIPYYYYIREACQGLKEPMWLDKIKKRLNEHGYPQVEGFVQDMRL
  IFQNHRASYKYKDFGQMGFRLEAEFEKNFKEVFAIQETNGNN

• Structural information:
  • Protein Domains: (22..13-)
    (/note="HSR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00747-)
    (580..66-)
    (/note="SAND-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00185-)
    (796..82-)
    (/note="Bromo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035"-)
  • Interpro: IPR001487  IPR036427  IPR004865  IPR010919  IPR000770   IPR030411  IPR019786  IPR011011  IPR001965  IPR019787  
  • Prosite: PS50014 PS51414 PS50864 PS01359 PS50016
  • PDB: 2MD7 2MD8 6G8R
  • PDBsum: 2MD7 2MD8 6G8R
  • STRING: ENSP00000375899
• Other Databases: GeneCards:  SP140  Malacards:  SP140

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016604	nuclear body	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0006952	defense response	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray